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Patient case report | Main data
Patient ID 590
Gender m
Age of symptoms onset 15 Month(s)
Age of diagnosis 21.52 Month(s)
Found in newborn screening n
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: German, Father: German
History First symptoms (severe vomiting, apathia) at the age of 15 months. At 21 months of age, the infant was hospitalized in the state of coma. Highly elevated levels of orotic acid led to the diagnosis of ornithine transcarbamylase deficiency, which was confirmed by detection of a residual OTC-activity of 8 % in liver cells (Prof. Colombo, Bern, Switzerland). Treatment with protein-restricted diet, sodium benzoate, arginine-HCl and carnitine. Decompensations during infections with increased ammonia levels, but without apathia. Retardation of psycho-intellectual development (1993; 2002). The boy is small for age and suffers from considerable obesity (May 2002). IQ of 69 (Sept. 2002).
Author Friedrich Trefz
Hospital Childrens Hospital Reutlingen
Date of entry 2002-05-31 12:05:42
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